615398.2.1

Somalia

Intellectual disability, profound; Bilateral tonic-clonic seizure; Atonic seizure; Epileptic encephalopathy; Sparse hair

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015937.6:c.1079G>T	2		Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615398.2.2	Somalia	Intellectual disability, profound; Epileptic encephalopathy; Sparse hair; Myoclonic seizure; Focal-onset seizure; Hypotonia; Ventriculomegaly	Male	Yes	Yes	Brother of 615398.2.1